HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672519C>A , CM000672.2:g.119672519C>A | GRCh38 |
NC_000010.10:g.121432031C>A , CM000672.1:g.121432031C>A | GRCh37 |
NC_000010.9:g.121422021C>A | NCBI36 |
NG_016125.1:g.26150C>A , LRG_742:g.26150C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.772C>A MANE Select | ENSP00000358081.4:p.Arg258= | |
ENST00000369085.7:c.772C>A | ENSP00000358081.3:p.Arg258= | |
ENST00000450186.1:c.598C>A | ENSP00000410036.1:p.Arg200= | |
NM_004281.3:c.772C>A , LRG_742t1:c.772C>A | NP_004272.2:p.Arg258= | |
XM_005270287.1:c.772C>A | XP_005270344.1:p.Arg258= | |
XM_005270287.2:c.772C>A | XP_005270344.1:p.Arg258= | |
NM_004281.4:c.772C>A MANE Select | NP_004272.2:p.Arg258= |